Vascular Malformations_Germline
Gene: PIK3R1
PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature.
Sources: Expert listCreated: 21 Jan 2020, 1:53 a.m.
Mode of inheritance
Other
Phenotypes
capillary and lymphatic malformation
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- capillary and lymphatic malformation
- Tags
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Glaucoma congenital
- Monogenic Diabetes
- Ciliary Dyskinesia
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Vascular Malformations_Germline
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Growth failure
History Filter Activity
2 Jun 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r1 has been classified as Red List (Low Evidence).
21 Jan 2020, Gel status: 1
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag somatic tag was added to gene: PIK3R1.
21 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PIK3R1 was added gene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PIK3R1 was set to Other Publications for gene: PIK3R1 were set to 29174369 Phenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation Review for gene: PIK3R1 was set to RED